Primary intestinal lymphangiectasia diagnosed by endoscopy following the intake of a high-fat meal

Primary intestinal lymphangiectasia is a protein-losing enteropathy caused by congenital malformation or obstruction of intestinal lymphatic vessels, which lead to excessive protein loss in the intestine and malabsorption of both chylomicrons and fat-soluble vitamins [3]. It affects males and females equally and occurs mainly in children and young adults. The management of primary intestinal lymphangiectasia is difficult for the paediatric gastroenterologist because of the rarity of the disease and its variable clinical manifestations. The diagnosis is based on the typical upper gastrointestinal endoscopic findings of diffuse scattered mucosal white blebs with characteristic histological findings of abnormal lymphatic dilatation [3] and the exclusion of other acquired causes of lymphatic damage [3]. Here, we report on a girl with primary intestinal lymphangiectasia in whom the initial diagnosis based on upper gastrointestinal endoscopy and histology was uncertain. Intestinal lymphangiectasia was diagnosed by upper gastrointestinal endoscopic biopsy sampling after a high-fat meal challenge.